Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

Authors: Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens, Jo Van Dorpe, Thalia Van Laethem, Toon Rosseel, Tim De Pooter, Peter De Rijk, Wouter De Coster, Björn Menten, Alfredo Dueñas Rey, Mojca Strazisar, Mette Bertelsen, Lisbeth Tranebjaerg, Elfride De Baere

Source: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

Subject Terms: CEP78, inherited retinal disease, cone-rod dystrophy with hearing loss, long-read sequencing, structural variants, single-cell gene expression analysis, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2021.664317/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/483ae383a34a48e1a6bbe9032362f8b3